ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002904742 SCV003257836 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2022-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TFG protein function. This variant has not been reported in the literature in individuals affected with TFG-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 329 of the TFG protein (p.Tyr329Ser).

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